Carnitine-acylcarnitine translocase (CACT) deficiency is a rare autosomal recessive disorder of fatty acid oxidation. The disease typically presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiac abnormalities, hepatic dysfunction, skeletal muscle weakness, encephalopathy, and early death. However, presentations at a later age with a milder phenotype have also been reported.

Initial screening can be done with plasma acylcarnitines. Definitive diagnosis can be made by detection of reduced CACT enzyme activity. Mutations in the SLC25A20 gene are responsible for CACT deficiency, and sequencing of this gene is recommended after positive biochemical analysis.

A small percentage of individuals who are carriers or have a diagnosis of carnitine-acylcarnitine translocase (CACT) deficiency may have a mutation that is not identified by this method (eg, promoter and deep intronic mutations). The absence of a mutation, therefore, does not eliminate the possibility of positive carrier status or the diagnosis of CACT deficiency.

In some cases, DNA alterations of undetermined significance may be identified.

Rare polymorphisms exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical and biochemical findings, additional testing should be considered.

A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.

Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.